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Very early and severe presentation of Triple A syndrome – case report and review of the literature.
- Published in:
- Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2024.1431383
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- Publication type:
- Article
New ophthalmic features in a family with triple A syndrome.
- Published in:
- 2011
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- Publication type:
- Report
Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome.
- Published in:
- European Journal of Pediatrics, 2012, v. 171, n. 10, p. 1453, doi. 10.1007/s00431-012-1745-1
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- Article
Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy.
- Published in:
- 2011
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- Publication type:
- journal article
Triple A syndrome: 32 years experience of a single centre (1977-2008).
- Published in:
- 2010
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- Publication type:
- journal article
Clinical and molecular genetic findings in a 6-year-old Bosnian boy with triple A syndrome.
- Published in:
- 2009
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- Publication type:
- journal article
Three siblings with triple A syndrome with a novel frameshift mutation in the AAAS gene and a review of 17 independent patients with the frequent p.Ser263Pro mutation.
- Published in:
- 2008
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- Publication type:
- journal article
Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia.
- Published in:
- 2020
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- Publication type:
- Letter
Relationship between Phenotypic and Genotypic Resistance of Subgingival Biofilm Samples in Patients with Periodontitis.
- Published in:
- Antibiotics (2079-6382), 2023, v. 12, n. 1, p. 68, doi. 10.3390/antibiotics12010068
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- Publication type:
- Article
A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 570, doi. 10.1002/ajmg.a.61435
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- Article
Role of ALADIN in Human Adrenocortical Cells for Oxidative Stress Response and Steroidogenesis.
- Published in:
- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0124582
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- Publication type:
- Article
Intracellular ROS level is increased in fibroblasts of triple A syndrome patients.
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- Journal of Molecular Medicine, 2010, v. 88, n. 12, p. 1233, doi. 10.1007/s00109-010-0661-y
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- Publication type:
- Article
CYP21A2 Gene Expression in a Humanized 21-Hydroxylase Mouse Model Does Not Affect Adrenocortical Morphology and Function.
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- Journal of the Endocrine Society, 2022, v. 6, n. 6, p. 1, doi. 10.1210/jendso/bvac062
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- Publication type:
- Article
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.
- Published in:
- Journal of the Endocrine Society, 2021, v. 5, n. 8, p. 1, doi. 10.1210/jendso/bvab086
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- Publication type:
- Article
Fertility and sexual activity in patients with Triple A syndrome.
- Published in:
- Frontiers in Endocrinology, 2024, p. 01, doi. 10.3389/fendo.2024.1357084
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- Publication type:
- Article
Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe.
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- European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1499, doi. 10.1038/ejhg.2008.132
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- Publication type:
- Article
Acromicric dysplasia due to a novel missense mutation in the fibrillin 1 gene in a three-generation family.
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- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 11, p. 1443, doi. 10.1515/jpem-2022-0287
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- Publication type:
- Article
Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty.
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- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 7/8, p. 933, doi. 10.1515/jpem-2014-0401
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- Publication type:
- Article
A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy.
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- Brain: A Journal of Neurology, 2011, v. 134, n. 1, p. 171, doi. 10.1093/brain/awq294
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- Publication type:
- Article
"Crying without tears" as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports.
- Published in:
- 2018
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- Publication type:
- journal article
Triple A patient cells suffering from mitotic defects fail to localize PGRMC1 to mitotic kinetochore fibers.
- Published in:
- Cell Division, 2018, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13008-018-0041-5
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- Publication type:
- Article
Homozygous mutation in murine retrovirus integration site 1 gene associated with a non‐syndromic form of isolated familial achalasia.
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- Neurogastroenterology & Motility, 2020, v. 32, n. 12, p. 1, doi. 10.1111/nmo.13923
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- Publication type:
- Article
Triple A Syndrome: Preliminary Response to the Antioxidant N-Acetylcysteine Treatment in a Child.
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- Hormone Research in Paediatrics, 2017, v. 88, n. 2, p. 167, doi. 10.1159/000465520
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- Publication type:
- Article
Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures.
- Published in:
- Human Mutation, 2005, v. 26, n. 3, p. 279, doi. 10.1002/humu.9357
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- Publication type:
- Article
Very early and severe presentation of Triple A syndrome - case report and review of the literature.
- Published in:
- Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2024.1431383
- By:
- Publication type:
- Article
A Humanized and Viable Animal Model for Congenital Adrenal Hyperplasia– CYP21A2 -R484Q Mutant Mouse.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 10, p. 5062, doi. 10.3390/ijms25105062
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- Publication type:
- Article
Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes.
- Published in:
- Clinical Endocrinology, 2007, v. 67, n. 2, p. 168, doi. 10.1111/j.1365-2265.2007.02855.x
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- Publication type:
- Article
Comparison of PET, CT, and Dual-Modality PET/CT Imaging for Monitoring of Imatinib (STI571) Therapy in Patients with Gastrointestinal Stromal Tumors.
- Published in:
- Journal of Nuclear Medicine, 2004, v. 45, n. 3, p. 357
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- Publication type:
- Article